부산대학교 도서관

Medical literature indicates clearly that cystinuria and cystinosis, two severe genetic pathologies, are related to the presence of abnormal L-cystine deposits. While L-cystine adopts a hexagonal crystal morphology consistent with its crystallographic structure (hexagonal, $\mathrm{P}6_{1}22$ space group), abnormal deposits related to cystinosis display a rectangular shape. Because this is unexpected from the hexagonal crystallographic structure of L-cystine, we have investigated this inconsistency using SEM (scanning electron microscopy) and IR (infrared) spectroscopy at micrometre and nanometre scales. Our data clearly indicate the presence of both L-cysteine and L-cystine. Considering that L-cysteine crystals display a rectangular shape, and that a transition phase between L-cysteine and L-cystine is well known, we propose the following model for deposit evolution in cystinosis. The initial abnormal deposit consists of L-cysteine, with a rectangular crystal morphology. The micrometre scale rectangular crystallite shape is retained after the phase transition equilibrium between L-cysteine and L-cystine is established, with some crystalline L-cysteine still remaining.